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Entry Name Description Category Pathway Gene
H01096 Pyruvate kinase deficiency Pyruvate kinase (PK) deficiency is inherited metabolic disorder caused by mutations in PKLR that encodes both L-PK (expressed in liver, renal cortex, and small intestine) and R-PK (restricted to erythrocytes) ... Inherited metabolic disorder PKLR [HSA:5313] [KO:K12406]
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